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A Guide for Families Family Guide 1 // 64 2 // 64 Family Guide THE DIAGNOSIS AND MANAGEMENT OF DUCHENNE MUSCULAR DYSTROPHY A GUIDE FOR FAMILIES FAMILY GUIDE 1 // 64 2 // 64 FAMILY GUIDE Table of Contents 1. INTRODUCTION 04 2. HOW TO USE THIS DOCUMENT 07 Putting your care team together Taking Duchenne step-by-step 3. CARE AT DIAGNOSIS 17 Suspicion of DMD 4. DIAGNOSING DUCHENNE 20 5. NEUROMUSCULAR MANAGEMENT 23 Maintaining physical strength and function 6. STEROID MANAGEMENT 24 Regimens, dosing, and side effects 7. ENDOCRINE MANAGEMENT 33 Growth, puberty, and adrenal monitoring 8. BONE HEALTH 37 Monitoring and treatment of brittle bones 9 ORTHOPEDIC MANAGEMENT 38 Monitoring for scoliosis and fractures FAMILY GUIDE 3 // 64 Table of Contents (continued) 10. REHABILITATION MANAGEMENT 39 Physical and occupational therapy 11. PULMONARY MANAGEMENT 43 Monitoring breathing muscles 12. CARDIAC MANAGEMENT 46 Monitoring the heart 13 GASTROINTESTINAL MANAGEMENT 48 Nutrition, swallowing, and other gastrointestinal issues 14. PSYCHOSOCIAL MANAGEMENT 51 Behavior, learning, and adjusting to life with DMD 15. CONSIDERATIONS FOR SURGERY 54 16. EMERGENCY CARE CONSIDERATIONS 56 17. TRANSITION OF CARE THROUGH ADULTHOOD 58 18. CONCLUSION 62 DISCLAIMER The information and advice published or made available in this booklet is not intended to replace the services of a medical provider (physician, nurse, nurse practitioner, etc.), nor does it constitute a doctor-patient relationship. This advice should be taken in conjunction with medical advice, which you should consult in all matters relating to your health, in particular with respect to symptoms that may require diagnosis or medical attention. Any action on your part in response to the information provided in this booklet is at your own discretion. Although every effort has been taken to ensure the accuracy and completeness of the information contained in this booklet, accuracy cannot be guaranteed, and care in each situation must be individualized. 4 // 64 FAMILY GUIDE INTRODUCTION Duchenne muscular dystrophy (DMD or Duchenne) is a difficult, complex diagnosis to understand and manage. This is not a world "This is a guide to the 'medical' that anyone enters willingly. The Muscular aspects of Duchenne, but always Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD), TREAT-NMD and bear in mind that the medical the World Duchenne Organization (UPPMD) side isn't everything. The idea all understand the heartache and angst that parents feel with this diagnosis, and the support is that by minimizing medical that is needed thereafter. As you journey through this diagnosis, it is important to all of problems, your child can get on us that you or your child receive the very best with his life and you can get on in care, support, and resources. For this reason, we have worked together to develop this 2018 with being a family. It's good to Duchenne Family Guide. remember that most Duchenne Duchenne is one of a spectrum of muscle children are happy kids and most diseases known as “dystrophinopathies.” Dystrophinopathies result from the absence families do very well after the of the muscle protein “dystrophin” and range initial shock of the diagnosis." from the more severe phenotype (symptoms Elizabeth Vroom, World Duchenne that you see) Duchenne muscular dystrophy Organization (UPPMD) to the milder yet variable phenotype of Becker muscular dystrophy. For simplicity, we primarily refer to Duchenne throughout this Family Guide. We have written this Family Guide to be directed toward the parent in the Diagnosis and Early Ambulatory Phase, and to the person living with Duchenne. For the purposes of this document, “you” refers to the person living with Duchenne. BACKGROUND OF THE DUCHENNE “CARE CONSIDERATIONS” The US Centers for Disease Control and Prevention (CDC) guidelines for Duchenne care are affectionately known in the community as the “care considerations.” Both the original and updated care considerations are based on an extensive study by international experts in Duchenne diagnosis and care, chosen to represent a broad range of specialties. They independently “rated” methods of care used in the management of Duchenne to say how “necessary,” “appropriate,” or “inappropriate” each one was at different stages of the course of Duchenne. In total they considered more than 70,000 different scenarios. This allowed them to establish guidelines that the majority agreed represented the “best practice” for Duchenne care. The updated guidelines were developed using the same process. The 2018 Duchenne Family Guide summarizes the results of the updates for the medical care of Duchenne muscular dystrophy. Both the original effort, as well as the updated guidelines, were supported by the CDC in collaboration with patient-advocacy groups and the TREAT-NMD network. The documents are published in Lancet Neurology and are FAMILY GUIDE 5 // 64 INTRODUCTION (continued) available on the websites of PPMD, MDA, UPPMD, TREAT-NMD and the CDC. Additionally, thanks to TREAT-NMD and the UPPMD, multiple translations are available through TREAT- NMD. In addition, each subspecialty area developed a separate article, for a deeper dive into a specific area of care. These articles will be published in a Pediatric Supplement volume of the journal Pediatrics, the official journal of the American Academy of Pediatrics, in 2018 and will be available through the websites listed below. REFERENCES FOR THE MAIN DOCUMENT: ADVOCACY WEBSITES www.mda.org www.parentprojectmd.org www.treat-nmd.eu https://worldduchenne.org/ PUBLISHED CARE GUIDELINES • Diagnosis and management of Duchenne muscular dystrophy, an update, part 1: Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management • Diagnosis and management of Duchenne muscular dystrophy, an update, part 2: Respiratory, cardiac, bone health, and orthopedic management • D iagnosis and management of Duchenne muscular dystrophy, an update, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan LANDING PAGES • CDC: www.cdc.gov/ncbddd/musculardystrophy/care-considerations.html • Parent Project Muscular Dystrophy: www.parentprojectmd.org/careguidelines • MDA: www.mda.org • World Duchenne Organization: www.worldduchenne.org • TREAT NMD: http://www.treat-nmd.eu/resources/care-overview/dmd-care/ diagnosis-management-dmd/ 6 // 64 FAMILY GUIDE REHABILITATION DIAGNOSIS NEUROLOGY ORTHOPEDICS ENDOCRINOLOGY E COORDIN AR AT C IO FAMILY N INDIVIDUAL WITH DMD PRIMARY/ RESPIRATORY EMERGENCY CARE CARDIOLOGY PSYCHOSOCIAL GASTROINTESTINAL/ NUTRITION TRANSITIONS ACROSS LIFE COURSE CHILDHOOD ADOLESCENCE ADULTHOOD Figure 1 FAMILY GUIDE 7 // 64 2. HOW TO USE THIS DOCUMENT YOU CAN USE THIS GUIDE IN TWO DIFFERENT WAYS: 1. To concentrate on a specific stage of Duchenne 2. To concentrate on a specific area of Duchenne care This next section, including Table 1, demonstrates the progression of Duchenne as a step- by-step process that varies from person to person. This guide is meant to be an overview of what care needs you might anticipate. Additionally, if you want to read specific care-management sections that may be relevant to you now, you can find them easily within the table of contents. PUTTING TOGETHER YOUR CARE TEAM The best management of Duchenne requires a multidisciplinary approach, with the input of specialists in many different areas who will provide your comprehensive care. A neuromuscular specialist (NMS) will act as the lead clinician of your neuromuscular team, taking responsibility for your overall care across your lifetime. As you move from pediatric to adult care, this specialist may change from a pediatric NMS to an adult NMS but will remain the lead clinician for your team. A care coordinator is an important member of the team who will help to make sure that communication and care are coordinated between team members, between you and the team, and between the team and your local/ primary care providers (pediatrician, family practice provider, etc.). If your neuromuscular team does not include a care coordinator, be sure to ask who you should call for questions/ concerns/emergencies between appointments. This Family Guide will provide you with basic information to allow you to participate effectively in the process of obtaining comprehensive care. Your NMS must be aware of all potential issues in Duchenne and must have access to the interventions that are the foundations for appropriate care and input from essential subspecialties. As you age, the emphasis of some interventions, as well as the inclusion of some subspecialists, will change. The Family Guide takes you through the different areas of Duchenne care (Figure 1). Not all of these subspecialists will be needed at all ages or stages, but it is important that they are accessible if necessary and that the person coordinating care has support in all these areas. YOU are at the center of your care team – it is important that you and your family are actively engaged with a medical professional who will coordinate and individualize your clinical care (Figure 1). 8 // 64 FAMILY GUIDE TAKING DUCHENNE STEP-BY-STEP (TABLE 1) Duchenne is a condition that changes very slowly over time. We have separated key stages of Duchenne to help you anticipate recommendations for care. Although these stages can be somewhat blurred in distinction, you may find it useful to use the stages to identify the kind of care and interventions that are recommended at any particular time and what you should expect of your care team at that
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